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Page 1
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Iannicelli M, Brancati F, Mougou-Zerelli S, Mazzotta A, Thomas S, Elkhartoufi N, Travaglini L, Gomes C, Ardissino GL, Bertini E, Boltshauser E, Castorina P, D'Arrigo S, Fischetto R, Leroy B, Loget P, Bonnière M, Starck L, Tantau J, Gentilin B, Majore S, Swistun D, Flori E, Lalatta F, Pantaleoni C, Penzien J, Grammatico P; International JSRD Study Group; Dallapiccola B, Gleeson JG, Attie-Bitach T, Valente EM. Iannicelli M, et al. Among authors: gomes c. Hum Mutat. 2010 May;31(5):E1319-31. doi: 10.1002/humu.21239. Hum Mutat. 2010. PMID: 20232449 Free PMC article.
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment.
Thauvin-Robinet C, Thomas S, Sinico M, Aral B, Burglen L, Gigot N, Dollfus H, Rossignol S, Raynaud M, Philippe C, Badens C, Touraine R, Gomes C, Franco B, Lopez E, Elkhartoufi N, Faivre L, Munnich A, Boddaert N, Van Maldergem L, Encha-Razavi F, Lyonnet S, Vekemans M, Escudier E, Attié-Bitach T. Thauvin-Robinet C, et al. Among authors: gomes c. Clin Genet. 2013 Jul;84(1):86-90. doi: 10.1111/cge.12013. Epub 2012 Oct 4. Clin Genet. 2013. PMID: 23036093 No abstract available.
KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.
Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T. Putoux A, et al. Among authors: gomes c. Nat Genet. 2011 Jun;43(6):601-6. doi: 10.1038/ng.826. Epub 2011 May 8. Nat Genet. 2011. PMID: 21552264 Free PMC article.
Immunohistochemical Investigation into Protein Expression Patterns of FOXO4, IRF8 and LEF1 in Canine Osteosarcoma.
Brot S, Cobb J, Alibhai AA, Jackson-Oxley J, Haque M, Patke R, Harris AE, Woodcock CL, Lothion-Roy J, Varun D, Thompson R, Gomes C, Kubale V, Dunning MD, Jeyapalan JN, Mongan NP, Rutland CS. Brot S, et al. Among authors: gomes c. Cancers (Basel). 2024 May 20;16(10):1945. doi: 10.3390/cancers16101945. Cancers (Basel). 2024. PMID: 38792023 Free PMC article.
Tenosynovial giant cell tumor: Case report and molecular investigation.
Guimarães LM, Bastos VC, Souza MRF, de Castro WH, Gomes CC, Gomez RS. Guimarães LM, et al. Among authors: gomes cc. Oral Surg Oral Med Oral Pathol Oral Radiol. 2024 Feb 2:S2212-4403(24)00057-9. doi: 10.1016/j.oooo.2024.01.014. Online ahead of print. Oral Surg Oral Med Oral Pathol Oral Radiol. 2024. PMID: 38760286
2,089 results